P56180
Gene name |
TPTE |
Protein name |
Putative tyrosine-protein phosphatase TPTE |
Names |
Cancer/testis antigen 44, CT44, Transmembrane phosphatase with tensin homology, Tumor antigen BJ-HCC-5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7179 |
EC number |
3.1.3.48: Phosphoric monoester hydrolases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P56180
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P56180-F1 | Predicted | AlphaFoldDB |
1277 variants for P56180
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 3 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409855169 rs1255945263 |
3 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1365331896 CA409855178 |
4 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 4 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288786195 CA409855198 |
4 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 4 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780937290 CA9978571 |
5 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334658836 CA409855206 |
6 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 6 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9978569 rs149877959 |
7 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149877959 CA409855215 |
7 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768447995 CA9978570 |
7 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409855221 rs1302263000 |
8 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1287691911 CA409855216 |
8 | T>P | No |
ClinGen TOPMed |
|
| TCGA novel | 9 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9978566 rs750881399 |
10 | L>M | No |
ClinGen ExAC TOPMed |
|
|
CA409855237 rs139096194 |
11 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 11 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139096194 CA9978565 |
11 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9978561 rs760917517 |
12 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 12 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9978563 CA9978562 rs764249659 |
12 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA9978558 rs762859803 |
13 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA409855242 rs150733676 |
13 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762859803 CA409855244 |
13 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA9978560 rs150733676 |
13 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9978559 rs150733676 |
13 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761362233 CA9978555 |
14 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs371889505 CA9978556 |
14 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9978554 rs368747576 |
15 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1350649577 CA409855259 |
16 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 16 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 17 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 17 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9978550 rs141265676 |
18 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9978551 rs746642375 |
18 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 18 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 19 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1488053137 CA409855275 |
19 | P>S | No |
ClinGen TOPMed |
|
|
CA9978547 rs757804219 |
20 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9978546 rs757804219 |
20 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298620209 CA409855289 |
21 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 21 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780491487 CA9978494 |
23 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753701324 CA9978492 |
24 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA409855329 rs1280255523 |
25 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 25 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409855327 rs1280255523 |
25 | T>P | No |
ClinGen gnomAD |
|
|
CA317685791 rs1034867365 |
25 | T>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA409855334 rs1334222473 |
26 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 26 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305293992 CA409855335 |
26 | S>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 26 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305293992 CA409855336 |
26 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 27 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 29 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409855360 rs1365439037 |
29 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 30 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 31 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752616094 CA9978489 |
31 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9978488 rs767031383 |
31 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA409855375 rs1424875846 |
32 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 33 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751216471 CA9978486 |
33 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9978484 rs143765390 |
35 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143765390 CA9978485 |
35 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409855402 rs1568960272 |
36 | P>R | No |
ClinGen Ensembl |
|
|
rs773587467 CA9978483 |
36 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9978481 rs368032413 |
37 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9978482 rs770187693 |
37 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9978480 rs368032413 |
37 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409855411 rs1362043376 |
38 | K>R | No |
ClinGen Ensembl |
|
|
CA409855417 rs1398151563 |
39 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1223320545 CA409855428 |
40 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA409855423 rs1342451134 |
40 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 40 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776319606 CA9978426 |
41 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1353676205 CA409855446 |
41 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 41 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs573430979 CA9978423 |
42 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs553549668 CA9978421 |
42 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573430979 CA9978422 |
42 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372593053 CA9978424 |
42 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9978420 rs191128347 |
43 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 43 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753570153 CA409855454 |
43 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9978419 rs191128347 |
43 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753570153 CA9978418 |
43 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9978417 rs764341151 |
44 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481112615 CA409855465 |
45 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA409855463 rs1481112615 |
45 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1251062330 CA409855476 |
46 | F>C | No |
ClinGen gnomAD |
|
|
rs756601993 CA9978416 |
46 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA409855484 rs1362128268 |
47 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 48 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753249051 CA9978415 |
50 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409855499 rs753249051 |
50 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409855504 rs759630343 |
51 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9978413 rs759630343 |
51 | R>Q | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs375208494 CA9978414 |
51 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409855511 rs1391589964 |
52 | V>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 52 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 53 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409855520 rs1568961317 |
54 | P>A | No |
ClinGen Ensembl |
|
|
rs1380800742 CA409855522 |
54 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA409855519 rs1568961317 |
54 | P>T | No |
ClinGen Ensembl |
|
|
CA409855524 rs766581855 |
55 | I>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766581855 CA409855525 |
55 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409855527 rs1600873450 |
55 | I>T | No |
ClinGen Ensembl |
|
|
rs766581855 CA9978410 |
55 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409855531 rs1406559176 |
56 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 56 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409855530 rs1406559176 |
56 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1034839443 CA317686205 |
56 | S>T | No |
ClinGen TOPMed |
|
|
rs1366027684 CA409855539 |
57 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 57 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773542326 CA9978408 |
58 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1422716916 CA409855547 |
58 | S>N | No |
ClinGen gnomAD |
|
|
CA9978409 rs773542326 |
58 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1184937704 CA409855574 |
59 | V>A | No |
ClinGen gnomAD |
|
|
rs762316652 CA9978358 |
59 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1262132371 CA409855584 |
61 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1262132371 CA409855582 |
61 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9978355 rs138821247 |
62 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs578173995 CA9978354 |
62 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9978353 rs578173995 |
62 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9978349 rs746405212 |
64 | S>F | No |
ClinGen ExAC |
|
|
rs758980001 CA409855597 |
64 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA9978350 rs758980001 |
64 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA409855603 rs1600890037 |
65 | K>T | No |
ClinGen Ensembl |
|
|
rs757387568 CA9978346 |
67 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9978345 rs111657679 |
68 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111657679 CA9978344 |
68 | V>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9978343 rs141287188 |
69 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751388245 CA9978342 |
70 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455342655 CA409855635 |
70 | D>H | No |
ClinGen TOPMed |
|
|
rs766186396 CA9978341 |
71 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 72 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 73 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9978340 rs762915125 |
75 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409855672 rs762915125 |
75 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773330398 CA9978339 |
76 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761414041 CA9978337 |
77 | Y>N | No |
ClinGen ExAC |
|
|
CA409855680 rs1184916247 |
77 | Y>S | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409855689 rs1439242294 |
78 | D>G | No |
ClinGen gnomAD |
|
|
rs1217933055 CA409817413 |
79 | S>I | No |
ClinGen gnomAD |
|
|
CA9978302 CA9978303 rs750266849 |
79 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA9978301 rs778954637 |
80 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 80 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757230899 CA9978300 |
80 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757230899 CA409817418 |
80 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409817422 rs763651497 |
81 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9978298 rs763651497 |
81 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763651497 CA9978299 |
81 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 83 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760172691 CA409817444 |
84 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9978297 rs760172691 |
84 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409817451 rs1396717686 |
85 | V>A | No |
ClinGen gnomAD |
|
|
CA317598589 rs201974711 |
85 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9978296 rs201974711 |
85 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA317598591 rs947422268 |
86 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1452854273 CA409817463 |
87 | S>* | No |
ClinGen TOPMed |
|
|
rs146617486 CA409817467 |
88 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146617486 CA409817466 |
88 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA317598598 rs774725086 |
88 | I>M | No |
ClinGen ExAC TOPMed |
|
|
rs146617486 CA9978294 |
88 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9978292 rs771322142 |
89 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 89 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773649955 CA9978290 |
90 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1215057188 CA409817485 |
91 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 91 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1600900637 CA409817489 |
92 | F>V | No |
ClinGen Ensembl |
|
|
rs1273030549 CA409817499 |
93 | A>V | No |
ClinGen TOPMed |
|
|
CA409817508 rs1402199095 |
94 | F>L | No |
ClinGen gnomAD |
|
|
CA9978286 rs769031865 |
95 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9978285 rs747276081 |
95 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1224059298 CA409817524 |
96 | L>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 96 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1224059298 CA409817525 |
96 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs746535199 CA9978236 |
98 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 99 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9978235 rs779643234 |
99 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 100 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9978234 rs757957068 |
100 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 101 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA317599077 rs982997525 |
101 | L>V | No |
ClinGen TOPMed |
|
|
CA9978233 rs558436767 |
102 | V>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 102 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161510768 CA409817564 |
103 | L>V | No |
ClinGen gnomAD |
|
|
CA409817572 rs1411632690 |
104 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9978230 rs370278673 |
104 | L>V | No |
ClinGen ESP ExAC |
|
| TCGA novel | 105 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764715975 CA9978228 |
106 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764715975 CA409817585 |
106 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 106 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 107 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762040852 CA409817591 |
107 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762040852 CA9978227 |
107 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 108 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140748372 CA9978226 |
108 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409817597 rs1453206794 |
109 | I>L | No |
ClinGen TOPMed |
|
| TCGA novel | 110 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409817611 rs1482810842 |
111 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 111 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 112 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139396383 CA9978223 |
112 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1440973763 CA409817619 |
112 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 115 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 115 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 115 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333264546 CA409817647 |
116 | T>N | No |
ClinGen TOPMed |
|
|
CA409817648 rs1333264546 |
116 | T>S | No |
ClinGen TOPMed |
|
|
rs1385045078 CA409817660 |
118 | S>N | No |
ClinGen gnomAD |
|
|
CA9978218 rs768601508 |
119 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 119 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9978217 rs746988740 |
119 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 120 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 120 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409817676 rs1388190275 |
120 | L>R | No |
ClinGen gnomAD |
|
|
rs556974504 CA9978215 |
121 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs556974504 CA9978216 |
121 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745506111 CA9978214 |
122 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1309434820 CA409817684 |
122 | I>V | No |
ClinGen TOPMed |
|
|
CA9978212 rs537044433 |
123 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9978213 rs778635152 |
123 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1022480037 CA317599167 TCGA novel |
124 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
CA317599160 rs181214187 |
124 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9978211 rs181214187 |
124 | L>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 125 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409817709 rs1170535192 |
126 | Y>C | No |
ClinGen TOPMed |
|
|
rs148393004 CA9978209 |
127 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 127 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs113140892 CA9978207 |
127 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113140892 CA9978208 |
127 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148393004 CA9978210 |
127 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 128 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9978205 rs751664954 |
128 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9978206 rs751664954 |
128 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs761546855 CA9978203 |
129 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9978204 rs371357693 |
129 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 130 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776380657 CA9978202 |
130 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409817737 rs1309223423 |
132 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA409817736 rs1230908495 |
132 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA409817739 rs1309223423 |
132 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9978200 rs760594483 |
133 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA409817741 rs1299836157 |
133 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9978199 rs548871257 |
134 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745398858 CA9978197 |
135 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9978196 rs778385277 |
136 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA409817758 rs1454820172 |
136 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 137 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs58884111 CA317599214 |
138 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9978194 rs748984984 |
138 | L>H | No |
ClinGen ExAC |
|
|
CA9978195 rs58884111 |
138 | L>I | No |
ClinGen ExAC gnomAD |
|
| rs1349214784 | 138 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409817781 rs756602065 CA9978192 |
139 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA409817780 rs1169843624 |
139 | M>R | No |
ClinGen gnomAD |
|
|
rs1375298987 CA409817776 |
139 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 140 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9978191 rs748657909 |
140 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs781723934 CA9978190 |
140 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 140 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409817793 rs1359876033 |
141 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs754952718 CA9978189 |
141 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs956530051 CA409817794 |
142 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA317599248 rs766470602 |
142 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 142 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766470602 CA9978187 |
142 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs956530051 CA317599247 |
142 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA409817799 rs1421061378 |
143 | L>F | No |
ClinGen gnomAD |
|
|
CA9978185 rs534971558 |
144 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 144 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_036516 CA9978184 rs144333919 |
144 | R>Q | a breast cancer sample; somatic mutation [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP |
| TCGA novel | 145 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227662906 CA409817806 |
145 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA409817807 rs1227662906 |
145 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs117465555 CA9978182 |
147 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs117465555 CA409817821 |
147 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 148 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9978181 rs775235250 |
149 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9978180 rs767516117 |
149 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 150 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 150 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 150 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 151 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9978118 rs751331487 |
151 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 152 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs545685203 CA9978116 |
152 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 153 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9978113 rs764836489 |
153 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764836489 CA9978114 |
153 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 154 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360133131 CA409817880 |
154 | F>S | No |
ClinGen TOPMed |
|
|
rs753473286 CA9978111 |
155 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 155 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9978108 rs767922290 CA9978107 |
156 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9978110 rs763679653 |
156 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409817899 rs760019807 CA9978106 |
157 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA409817895 rs1344965268 |
157 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs576586650 CA9978105 |
158 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1365376661 CA409817909 |
159 | N>D | No |
ClinGen gnomAD |
|
|
CA409817911 rs749339905 |
159 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 159 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749339905 CA9978103 |
159 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9978100 rs748420771 |
161 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA9978101 rs769938767 |
161 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9978098 rs758335031 |
162 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779972291 CA9978099 |
162 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9978097 rs745734162 |
163 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779009659 CA9978096 |
163 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 163 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs974928235 CA317601818 |
164 | A>S | No |
ClinGen TOPMed |
|
|
CA9978094 rs753321553 |
165 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9978095 rs756744570 |
165 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9978091 rs752408703 |
166 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372056580 CA9978090 |
166 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752408703 CA9978092 |
166 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600916686 CA409817952 |
167 | V>L | No |
ClinGen Ensembl |
|
|
rs759895278 CA9978089 |
168 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 168 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409817959 rs1336869572 |
168 | I>T | No |
ClinGen TOPMed |
|
|
CA409817963 rs556698994 |
169 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556698994 CA9978088 |
169 | L>I | Variant assessed as Somatic; 0.0004164 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 170 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769964335 CA9978084 |
172 | V>D | No |
ClinGen ExAC TOPMed |
|
|
rs773134113 CA9978086 |
172 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773134113 CA9978085 |
172 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293322799 CA409817983 |
173 | D>E | No |
ClinGen TOPMed |
|
|
rs771936846 CA9978082 |
173 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9978083 rs748367707 |
173 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9978081 rs771936846 |
173 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778872276 CA9978079 |
174 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA409817986 rs745681114 |
174 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs745681114 CA9978080 |
174 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA409817991 rs1430389765 |
175 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs755683317 CA9978075 |
175 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755683317 CA9978076 |
175 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426895138 CA409817998 |
176 | Y>* | No |
ClinGen gnomAD |
|
|
rs752275988 CA9978073 |
176 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA9978072 rs755284879 |
177 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA9978071 rs755284879 |
177 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA409818001 rs1182728342 |
177 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 178 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255908843 CA409818009 |
178 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 178 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409818008 rs1255908843 |
178 | F>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 179 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409818024 rs1194972976 |
180 | D>Y | No |
ClinGen TOPMed |
|
|
rs763345667 CA9978066 |
181 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367969920 CA9978067 |
181 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA409818039 rs750996733 |
182 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750996733 CA9978065 |
182 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 182 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1202420817 CA409818044 |
183 | L>* | No |
ClinGen gnomAD |
|
|
rs761998205 CA9978063 |
183 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776946246 CA9978061 |
184 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs968847494 CA9978058 |
185 | R>G | No |
ClinGen TOPMed |
|
|
CA9978056 rs773997628 |
185 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA9978055 rs770820681 |
185 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA9978057 rs773997628 |
185 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA409818057 rs1410316854 |
186 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 186 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9978054 rs749182650 |
186 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA317601996 rs878915635 |
187 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 187 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9978052 rs769232775 |
187 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 188 | P>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 188 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747676071 CA9978051 |
188 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 188 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 189 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9978049 rs138088406 |
189 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1326665432 CA409818090 |
189 | R>S | No |
ClinGen TOPMed |
|
|
CA9978050 rs138088406 |
189 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409818095 rs1255334410 |
190 | W>* | No |
ClinGen gnomAD |
|
|
rs1483486377 CA409818093 |
190 | W>R | No |
ClinGen gnomAD |
|
|
rs751838173 CA9977994 |
191 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977993 rs765013039 |
191 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229365937 CA409818106 |
192 | H>D | No |
ClinGen gnomAD |
|
|
CA409818105 rs1229365937 |
192 | H>N | No |
ClinGen gnomAD |
|
| TCGA novel | 192 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364743880 CA409818109 |
192 | H>R | No |
ClinGen gnomAD |
|
|
rs1229365937 CA409818107 |
192 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 193 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977991 rs776502829 |
194 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546847748 CA9977990 |
194 | L>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs546847748 CA409818122 |
194 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776502829 CA409818121 |
194 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977988 rs775040644 |
195 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9977987 rs1810856 |
195 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977986 rs1810856 VAR_057347 |
195 | R>Q | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs771358886 CA9977984 |
196 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs774147763 CA9977985 |
196 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9977982 rs147014138 |
198 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9977983 rs147014138 |
198 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756616733 CA9977981 |
198 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs796693040 CA409818138 |
199 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 199 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA317602813 rs796693040 |
199 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1368265719 CA409818141 |
199 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA409818137 rs796693040 |
199 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9977980 rs748655283 |
200 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs781320323 CA9977979 |
201 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1447008838 CA409818154 |
202 | L>M | No |
ClinGen TOPMed |
|
|
rs757005766 CA9977973 |
204 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1160110233 CA409818177 |
205 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263464205 CA409818175 |
205 | I>T | No |
ClinGen TOPMed |
|
|
rs753599184 CA9977972 |
205 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA409818183 rs1293093836 |
206 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA409818181 rs1293093836 |
206 | F>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 207 | H>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148306452 CA9977971 |
207 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 207 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148306452 CA9977970 |
207 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 207 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409818195 rs1309227089 |
208 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 208 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 209 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766982471 CA9977968 |
209 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs550676604 CA9977966 |
210 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9977967 rs759128119 |
210 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977965 rs143230290 |
211 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143230290 CA409818211 |
211 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141319407 CA9977964 |
211 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773692291 CA9977963 |
212 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs770116757 CA9977962 |
212 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181453637 CA409818223 |
213 | R>* | No |
ClinGen gnomAD |
|
| rs1568981005 | 213 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 213 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 213 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748685215 CA9977961 |
213 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271034419 CA409818238 |
215 | L>F | No |
ClinGen gnomAD |
|
|
CA409818240 rs1211817707 |
215 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1211817707 CA409818241 |
215 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA409818242 rs1568981033 |
216 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA409818256 CA409818257 rs1357325155 |
217 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA409818260 rs781556068 |
218 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9977960 rs781556068 |
218 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1352783639 CA409818263 |
219 | I>L | No |
ClinGen gnomAD |
|
|
CA9977957 rs780146856 |
219 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA409818272 rs1216098135 |
220 | R>I | No |
ClinGen gnomAD |
|
|
CA409818270 rs1216098135 |
220 | R>K | No |
ClinGen gnomAD |
|
|
rs758595440 CA9977956 |
220 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA9977954 rs1243361386 |
221 | R>G | No |
ClinGen TOPMed |
|
|
rs1333426167 CA409818275 |
221 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1450717329 CA409818279 |
221 | R>S | No |
ClinGen TOPMed |
|
|
CA409818276 rs1333426167 |
221 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel rs1273898804 |
222 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs530503790 CA409818282 |
222 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs530503790 CA9977948 |
222 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs76723236 CA9977949 |
222 | R>W | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 223 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409818293 rs1212492438 |
223 | V>I | No |
ClinGen gnomAD |
|
|
CA409818304 rs1381007288 |
224 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 225 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760125022 CA9977884 |
226 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA9977885 rs760125022 |
226 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA409818320 rs1353499643 |
227 | K>E | No |
ClinGen gnomAD |
|
|
rs771102738 CA9977882 |
227 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 228 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 228 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749470071 CA9977880 |
228 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1810540 CA9977878 |
229 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409818334 rs566493792 |
229 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs566493792 CA9977877 |
229 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 230 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745876374 CA9977874 |
230 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA409818345 rs1185018439 |
231 | T>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA409818346 rs1185018439 |
231 | T>R | No |
ClinGen gnomAD |
|
|
rs1256015892 CA409818344 |
231 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA409818352 rs1460256558 |
232 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9977871 rs756795446 |
232 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777423996 CA409818356 |
233 | D>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 233 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753370600 CA9977870 |
233 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777423996 CA9977869 |
233 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9977867 rs753025946 |
234 | G>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 234 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767922064 CA9977866 |
235 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 236 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 236 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409818372 rs1332496921 |
236 | D>Y | No |
ClinGen gnomAD |
|
|
CA9977864 rs752179158 |
237 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA9977863 rs766306733 |
237 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9977865 rs752179158 |
237 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA409818388 rs773520801 |
238 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977862 rs763108699 |
238 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1440212412 CA409818393 |
239 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA409818394 rs1440212412 |
239 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA409818400 rs1319030312 |
240 | T>I | No |
ClinGen TOPMed |
|
|
rs1351818147 CA409818395 |
240 | T>P | No |
ClinGen gnomAD |
|
|
rs1351818147 CA409818397 |
240 | T>S | No |
ClinGen gnomAD |
|
|
CA9977859 rs770155216 |
241 | Y>* | No |
ClinGen ExAC |
|
|
rs112131828 CA9977857 |
241 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9977860 rs770172879 |
241 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs113857613 CA9977854 |
242 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113857613 CA9977855 |
242 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9977856 rs113857613 |
242 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 243 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 243 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977852 rs748824726 |
243 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA9977853 rs770294722 |
243 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755738282 CA9977850 |
244 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9977778 rs376901636 |
245 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9977780 rs376901636 |
245 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371995616 CA9977776 |
245 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371995616 CA9977775 |
245 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371995616 CA9977777 |
245 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376901636 CA9977779 |
245 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9977773 rs149843545 |
246 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149843545 CA9977772 |
246 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9977774 rs139751293 |
246 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 247 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 248 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977770 rs753721708 |
248 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA409818451 rs760125718 CA9977768 |
249 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 249 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763600502 CA9977769 |
249 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA9977766 rs771816323 |
250 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs771816323 CA9977767 |
250 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1164702145 CA409818461 |
251 | F>S | No |
ClinGen gnomAD |
|
|
rs771485500 CA9977763 |
252 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs771485500 CA409818468 |
252 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs774840971 CA409818466 |
252 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977764 rs774840971 |
252 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977762 rs749740113 |
253 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA9977761 rs778158530 |
253 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9977760 rs769873939 |
254 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA409818480 rs1248684784 |
255 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9977759 rs557388284 CA9977758 |
255 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1469146787 CA409818482 |
256 | R>G | No |
ClinGen gnomAD |
|
|
rs751839881 CA9977756 |
256 | R>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9977753 rs753759047 |
257 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947389703 CA409818492 |
257 | Q>H | No |
ClinGen TOPMed |
|
|
CA9977754 rs753759047 |
257 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 257 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977751 rs752229389 |
258 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs752229389 CA9977750 |
258 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763970376 CA9977752 |
258 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs752229389 CA409818496 |
258 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9977749 rs767190339 |
259 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs568590987 CA9977748 |
259 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767190339 CA409818501 |
259 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 259 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977747 rs368392876 |
260 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 260 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 261 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409818510 rs1323653855 |
261 | R>G | No |
ClinGen gnomAD |
|
|
rs1473567685 CA409818512 |
261 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 261 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409818530 rs1402319455 |
263 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 263 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977746 rs763252474 |
264 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192032603 CA409818534 |
264 | I>M | No |
ClinGen TOPMed |
|
|
rs555185771 CA317603721 |
264 | I>N | No |
ClinGen 1000Genomes |
|
| TCGA novel | 264 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977745 rs763252474 |
264 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel rs534750768 CA9977741 |
265 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA |
|
rs773734060 CA9977744 |
265 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9977743 rs770173979 |
265 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 266 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1328516038 CA409818552 |
266 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1328516038 CA409818553 |
266 | E>Q | No |
ClinGen gnomAD |
|
|
rs1314690861 CA409818562 |
267 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs778657533 CA409818561 |
267 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778657533 CA9977688 |
267 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166228143 CA409818567 |
268 | V>M | No |
ClinGen gnomAD |
|
|
CA9977686 rs754178012 |
269 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs141045272 CA9977687 |
269 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764500781 CA9977685 |
270 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs764500781 CA409818575 |
270 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA409818576 rs1480710700 |
270 | F>Y | No |
ClinGen gnomAD |
|
|
CA9977683 rs74553878 |
272 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9977684 rs761162465 |
272 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA409818586 rs761162465 |
272 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9977681 rs534010574 |
273 | K>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9977682 rs534010574 |
273 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409818594 rs1232536001 |
273 | K>R | No |
ClinGen gnomAD |
|
|
rs1232536001 CA409818593 |
273 | K>T | No |
ClinGen gnomAD |
|
|
CA409818605 rs1449928765 |
274 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs763319578 CA9977677 |
275 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA409818609 rs776558201 CA9977675 |
275 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs763319578 CA9977676 |
275 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA317607379 rs571326171 |
275 | H>Y | No |
ClinGen 1000Genomes |
|
|
rs148448130 CA9977673 |
276 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9977674 rs148448130 |
276 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9977672 rs200020621 |
276 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977671 rs200020621 |
276 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327006359 CA409818613 |
277 | N>D | No |
ClinGen gnomAD |
|
|
CA409818611 rs1327006359 |
277 | N>H | No |
ClinGen gnomAD |
|
|
rs1461301295 CA409818618 |
277 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 278 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778442291 CA9977670 |
278 | H>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9977668 rs749002591 |
278 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977667 rs749002591 |
278 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778442291 CA9977669 |
278 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1368844840 CA746906350 |
279 | Y>* | No |
ClinGen TOPMed |
|
|
CA9977666 rs778041505 |
279 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs755481692 CA9977663 |
280 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755481692 CA9977664 |
280 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 280 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs532485045 CA9977661 |
280 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs532485045 CA9977660 |
280 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9977656 rs570106512 |
281 | V>G | No |
ClinGen 1000Genomes |
|
|
rs773573743 CA9977658 |
281 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773573743 CA9977659 |
281 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760543605 CA9977654 |
282 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs760543605 CA409818637 |
282 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs745849745 CA9977651 |
283 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 283 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 283 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs550201639 CA9977650 |
283 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745849745 CA9977652 |
283 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1304526750 CA409818656 |
285 | C>* | No |
ClinGen gnomAD |
|
|
CA9977647 rs777422330 |
285 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 285 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409818659 rs756392301 |
286 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977646 rs756392301 |
286 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762873682 CA9977588 |
286 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409818671 rs762873682 |
286 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430946858 CA409818676 |
287 | E>Q | No |
ClinGen TOPMed |
|
|
CA9977587 rs149333450 |
288 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9977586 rs764750519 |
288 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555815970 CA9977584 |
289 | A>D | No |
ClinGen Ensembl |
|
|
CA409818688 rs1360961339 |
289 | A>T | No |
ClinGen gnomAD |
|
|
CA9977582 rs778991288 |
290 | Y>* | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 290 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977578 rs760460329 |
291 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs373367615 CA9977580 |
291 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373367615 CA9977579 |
291 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs373367615 CA317607803 |
291 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA409818705 rs1255325443 |
292 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 293 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772565284 CA409818717 |
293 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409818736 rs1235252872 |
296 | H>D | No |
ClinGen TOPMed |
|
|
rs1241942614 CA409818740 |
296 | H>L | No |
ClinGen gnomAD |
|
|
rs1235252872 CA409818735 |
296 | H>Y | No |
ClinGen TOPMed |
|
|
CA409818743 rs1307200154 |
297 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 297 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749295156 CA409818753 |
298 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA9977572 rs749295156 |
298 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA9977571 rs777956432 |
298 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555815998 CA9977568 |
299 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 299 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977570 rs139617622 |
299 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139963428 CA9977564 |
300 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9977563 rs139963428 |
300 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409818764 rs1471839718 |
301 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 301 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409818768 rs1464146574 |
301 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 302 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 302 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 302 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753268180 CA9977561 |
302 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409818773 rs753268180 |
302 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757262160 CA9977562 |
302 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA409818784 TCGA novel rs1236673150 |
303 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA409818776 TCGA novel rs1439327538 |
303 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA9977559 rs200373866 |
304 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 304 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763761168 CA9977560 |
304 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173912047 CA409818786 |
304 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 305 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775291247 CA9977558 |
305 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA409818800 rs1301828196 |
306 | D>E | No |
ClinGen gnomAD |
|
|
rs759848069 CA317607865 |
306 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759848069 CA9977556 |
306 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977557 rs767943361 |
306 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 307 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977555 rs774817598 |
307 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA409818810 rs1238898616 |
308 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 308 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977554 rs771318641 |
308 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 309 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977550 rs748311592 |
309 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs373623566 CA9977552 |
309 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9977551 rs373623566 |
309 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9977546 rs142719163 |
310 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9977545 rs142719163 |
310 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745622481 CA9977547 |
310 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745622481 CA9977548 |
310 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 311 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199963822 CA9977540 |
312 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9977541 rs199963822 |
312 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9977537 rs564242982 |
313 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564242982 CA9977536 |
313 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377711707 CA9977538 |
313 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs4094946 CA9977473 |
314 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs4094946 CA9977472 |
314 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375679452 CA9977470 |
314 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 314 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs571590085 CA9977471 |
314 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571590085 CA409818848 |
314 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754298589 CA9977467 |
315 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA409818853 rs757639152 |
315 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs779188578 CA9977469 |
315 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977468 rs757639152 |
315 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs779188578 CA409818851 |
315 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409818857 rs764628536 |
316 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977466 rs764628536 |
316 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 317 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 318 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977464 rs558058436 |
319 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538136276 CA9977463 |
319 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409818879 rs538136276 |
319 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 320 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774728792 CA9977461 |
320 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774728792 CA409818883 |
320 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409818889 rs1463937346 |
321 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 321 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977459 rs761732225 |
322 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746981324 CA9977456 |
323 | N>D | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1600943006 CA409818904 |
323 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9977455 rs775063074 |
323 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9977454 rs771577928 |
324 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1600943032 CA409818909 |
324 | E>V | No |
ClinGen Ensembl |
|
|
rs1405114738 CA409818915 |
325 | W>* | No |
ClinGen gnomAD |
|
|
CA9977451 rs756940047 |
325 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs145674850 CA9977452 |
325 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1308850547 CA409818922 |
326 | M>K | No |
ClinGen gnomAD |
|
|
CA409818923 rs1308850547 |
326 | M>T | No |
ClinGen gnomAD |
|
|
CA9977450 rs749639367 |
326 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs756637390 CA9977448 |
327 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778056355 CA9977449 |
327 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9977445 rs767577291 |
328 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA9977440 rs569151332 |
329 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763319592 CA9977442 |
329 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 329 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977443 rs751792307 |
329 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs763319592 CA9977441 |
329 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9977444 rs751792307 |
329 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA409818942 rs1419823055 |
330 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 330 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977438 rs760596997 |
330 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1455374739 CA409818951 |
331 | E>G | No |
ClinGen gnomAD |
|
|
rs1259242864 CA409818957 |
332 | N>H | No |
ClinGen Ensembl |
|
|
CA409818965 rs1190511832 |
333 | I>N | No |
ClinGen gnomAD |
|
|
rs775309084 CA9977437 |
333 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9977432 rs149228869 |
334 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9977434 rs149228869 CA9977433 |
334 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9977430 rs371882723 |
335 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 335 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977429 rs371882723 |
335 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409818977 rs751667955 |
336 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780342614 CA9977425 |
336 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9977426 rs751667955 |
336 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302442512 CA409818981 |
337 | H>N | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1302442512 CA409818983 |
337 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750618460 CA409818993 |
338 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 338 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750618460 CA9977423 |
338 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977422 rs763895749 |
339 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1379105045 CA409819000 |
339 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 339 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 340 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206013199 CA409819011 |
341 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760415994 CA9977421 |
341 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 341 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 342 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767416660 CA9977419 |
342 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs759523599 CA409819017 |
342 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977418 rs759523599 |
342 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767416660 CA409819015 |
342 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs763812669 CA9977351 |
343 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770431415 CA9977416 |
343 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 343 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409819039 rs1162716274 |
344 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 344 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409819042 rs1456490474 |
344 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs760458375 CA9977350 |
345 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs752996568 CA9977349 |
346 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 346 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767925419 CA9977348 |
347 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9977347 rs759901111 |
347 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA409819066 rs770958415 CA9977345 |
348 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409819062 rs1353219798 |
348 | M>K | No |
ClinGen TOPMed |
|
|
rs774942411 CA9977346 |
348 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 349 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762988096 CA317613440 |
349 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs762988096 CA9977344 |
349 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA317613445 rs202169239 |
350 | C>F | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 351 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773329925 CA9977343 |
351 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 351 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977341 rs148651545 |
352 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779650133 CA9977340 |
353 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs374102942 CA9977338 |
354 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777490013 CA9977334 |
355 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757306400 CA9977337 |
355 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977336 rs757306400 |
355 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777490013 CA9977335 |
355 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 356 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162654957 CA409819108 |
356 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 356 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 356 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977331 rs575650462 |
357 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9977329 rs370631185 |
358 | I>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1174648889 CA409819121 |
358 | I>M | No |
ClinGen gnomAD |
|
|
rs370631185 CA409819119 |
358 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367973111 CA9977327 |
359 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367973111 CA409819123 |
359 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1377549344 CA409819124 |
359 | C>Y | No |
ClinGen gnomAD |
|
|
CA9977325 rs763509744 |
361 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773278292 CA9977324 |
361 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs144150406 CA9977323 |
362 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761887091 CA9977322 |
362 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1200817152 CA409819144 |
363 | K>E | No |
ClinGen gnomAD |
|
|
CA9977320 rs73336307 CA9977319 |
363 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 364 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977260 rs752863082 |
365 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs557556075 CA9977259 |
365 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409819170 rs752863082 |
365 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA9977258 rs759896199 |
366 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1425262032 CA409819181 |
367 | Y>C | No |
ClinGen TOPMed |
|
|
rs750239904 CA409819189 |
368 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs750239904 CA9977257 |
368 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 369 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 369 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764947521 CA9977256 |
369 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 371 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409819212 rs1448997269 |
371 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 371 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568768090 CA409819206 |
371 | E>Q | No |
ClinGen Ensembl |
|
|
rs1242592108 CA409819213 |
372 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 372 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977254 rs537312499 |
373 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9977253 rs568780841 |
373 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 374 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775033829 CA9977251 |
374 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 375 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1600971676 CA409819234 |
375 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 375 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409819229 rs1435060214 |
375 | D>N | No |
ClinGen gnomAD |
|
|
CA409819232 rs1389865708 |
375 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA409819238 rs1363177690 |
376 | K>* | No |
ClinGen gnomAD |
|
|
rs1363177690 CA409819237 |
376 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 376 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419954462 CA409819248 |
377 | T>I | No |
ClinGen gnomAD |
|
|
CA9977249 rs368593383 |
377 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 378 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977248 rs779276041 |
378 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA9977247 rs771218867 |
378 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 379 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 379 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977245 rs778109490 |
379 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA9977243 CA409819260 rs371388267 |
379 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 379 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977241 rs755184182 |
380 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9977242 rs781489069 |
380 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1219005434 CA409819268 |
381 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 381 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751845563 CA9977240 |
381 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 382 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 382 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 383 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 383 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142165446 CA9977238 |
384 | G>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142165446 TCGA novel CA9977239 |
384 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD NCI-TCGA |
|
rs1314325002 CA409819293 |
384 | G>V | No |
ClinGen gnomAD |
|
|
CA9977236 rs763919484 |
385 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA317614204 rs212146 |
386 | K>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs212146 VAR_065097 CA9977235 |
386 | K>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs212146 CA317614194 |
386 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774909292 CA9977234 |
386 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA409819304 rs1359494616 |
387 | T>A | No |
ClinGen gnomAD |
|
|
rs767024313 CA9977233 |
387 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 388 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773903588 CA9977231 |
388 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409819308 rs759137049 |
388 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9977232 rs759137049 |
388 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| rs1427778942 | 389 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1175222524 CA409819317 |
389 | S>F | No |
ClinGen gnomAD |
|
|
rs773683205 CA9977228 |
390 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 390 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977229 rs749592520 |
390 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| rs754185411 | 391 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977168 rs754185411 |
391 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs764581952 CA9977166 |
392 | R>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 392 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409819341 rs1201661482 |
392 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 393 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761585045 | 393 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977164 rs146018947 |
393 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409819347 rs761069467 |
393 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977165 rs761069467 |
393 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 394 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286371238 CA409819356 |
394 | V>G | No |
ClinGen gnomAD |
|
|
rs1348096962 CA409819352 |
394 | V>I | No |
ClinGen TOPMed |
|
|
rs1348096962 CA9977161 |
394 | V>L | No |
ClinGen TOPMed |
|
|
rs759614386 CA9977160 |
395 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204319921 CA409819357 |
395 | A>T | No |
ClinGen gnomAD |
|
|
rs1346175489 CA409819367 CA409819368 |
396 | Y>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs771076869 CA9977158 |
396 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409819372 rs1300915060 |
397 | F>S | No |
ClinGen TOPMed |
|
|
CA9977157 rs749579434 |
397 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs555626581 CA409819376 |
398 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555626581 CA9977156 |
398 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409819380 rs1342604003 |
398 | A>V | No |
ClinGen gnomAD |
|
|
rs573185698 CA9977153 |
399 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9977152 rs758288447 |
399 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs573185698 CA9977154 |
399 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9977150 rs778568094 |
400 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9977151 rs749892686 CA409819387 |
400 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs146717676 CA9977148 |
401 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 402 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409819402 rs1445024812 |
402 | H>Q | No |
ClinGen gnomAD |
|
|
rs756465436 CA9977146 |
402 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1263386872 CA409819399 |
402 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA9977145 rs753029047 |
403 | L>F | No |
ClinGen ExAC |
|
| TCGA novel | 403 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139488785 CA9977142 |
404 | Y>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA409819418 rs1568778378 |
405 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 405 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409819426 rs1221748195 |
406 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA409819430 rs1342464348 |
406 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA409819429 rs1342464348 |
406 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9977139 rs774411073 |
406 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1163669069 CA409819437 |
407 | N>S | No |
ClinGen gnomAD |
|
|
rs267606169 CA317615445 |
408 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 408 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel CA409819440 rs267606169 |
408 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1430308618 CA409819447 |
409 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs763139804 CA9977137 |
409 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1430308618 CA409819446 |
409 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769940388 CA9977135 |
410 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977134 rs775159573 |
410 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977133 rs775159573 |
410 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409819450 rs769940388 |
410 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 411 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 411 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756871735 CA9977130 |
412 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977129 rs756871735 |
412 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9977131 rs143510517 |
412 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 413 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777436958 CA9977128 |
413 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA9977125 rs753041627 |
414 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767837848 CA9977124 |
414 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs767837848 CA409819469 |
414 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9977126 rs753041627 |
414 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187994641 CA409819484 |
416 | I>M | No |
ClinGen gnomAD |
|
|
rs755465026 CA9977123 |
416 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9977122 rs752110213 |
417 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA409819494 rs1432864309 |
418 | H>N | No |
ClinGen TOPMed |
|
|
rs766414837 CA9977119 |
418 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409819497 rs1159029352 |
418 | H>Q | No |
ClinGen TOPMed |
|
|
rs766414837 CA409819495 |
418 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 418 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977118 rs762979710 |
419 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs539061665 CA9977117 |
419 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409819505 rs1214103584 |
420 | I>L | No |
ClinGen gnomAD |
|
|
CA409819508 rs761942601 |
420 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA9977115 rs761942601 |
420 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA409819509 rs761942601 |
420 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1214103584 CA409819506 |
420 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 421 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286237741 CA409819513 |
421 | I>V | No |
ClinGen gnomAD |
|
|
CA409819523 rs1162958799 |
422 | Y>* | No |
ClinGen TOPMed |
|
|
rs772047311 CA9977113 |
422 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977114 rs775347600 |
422 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs570468666 CA9977112 |
423 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs771019119 CA9977110 |
424 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977107 rs747814822 |
425 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977106 rs747814822 |
425 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138794341 CA9977108 |
425 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 425 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977104 rs150256961 |
426 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150256961 CA9977105 |
426 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9977050 rs374643597 |
426 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA317616349 rs374643597 |
426 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9977048 rs141919406 |
427 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409819552 rs1469295222 |
427 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1175629199 CA409819549 |
427 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA409819550 rs1175629199 |
427 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9977046 rs771783444 |
429 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746164402 CA9977045 |
429 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409819570 rs1244217159 |
430 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1185130243 CA409819565 |
430 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9977044 rs774787076 |
430 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA409819575 rs1469906857 |
431 | L>P | No |
ClinGen TOPMed |
|
|
CA409819572 rs1007047312 |
431 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1461137118 CA409819583 |
432 | K>N | No |
ClinGen gnomAD |
|
|
rs1253677511 CA409819585 |
433 | I>L | No |
ClinGen TOPMed |
|
|
CA9977042 rs771341118 |
434 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
TCGA novel rs1252534610 CA409819597 |
434 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA409819596 rs1459555969 |
434 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1459555969 CA409819594 |
434 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9977041 rs749871986 |
435 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA409819604 rs1227567112 |
435 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 436 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748269755 CA9977038 |
436 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9977039 rs553246393 |
436 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 436 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777978866 CA9977040 |
436 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977036 rs755241504 CA409819615 |
437 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977037 rs781224316 |
437 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409819624 rs1402432377 |
438 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1443714288 CA409819621 |
438 | E>G | No |
ClinGen TOPMed |
|
|
rs1299965815 CA409819627 |
439 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1299965815 CA409819626 |
439 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9977035 rs750118466 |
439 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9977032 rs757127690 |
441 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9977033 rs757127690 |
441 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 442 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 442 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409819654 rs1183421286 |
443 | F>S | No |
ClinGen gnomAD |
|
|
CA409819661 rs760134432 |
444 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977028 rs760134432 |
444 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977029 rs763560950 |
444 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1168082171 | 444 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977026 rs767015423 |
445 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409819664 rs767015423 |
445 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409819662 rs774999244 |
445 | T>P | No |
ClinGen ExAC |
|
|
rs767015423 CA409819665 |
445 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9977027 rs774999244 |
445 | T>S | No |
ClinGen ExAC |
|
|
rs1249187064 CA409819668 |
446 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1249187064 CA409819667 |
446 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 447 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977025 rs759301774 |
447 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 447 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1314078554 CA409819681 |
448 | L>* | No |
ClinGen gnomAD |
|
|
rs893673415 CA317616449 |
448 | L>V | No |
ClinGen TOPMed |
|
|
CA9977022 rs749783984 |
449 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1483152250 CA409819684 |
449 | G>R | No |
ClinGen TOPMed |
|
|
rs749783984 CA409819688 |
449 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409819696 rs1391972379 |
450 | K>N | No |
ClinGen gnomAD |
|
|
CA9977020 rs770447075 |
451 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409819707 rs147105244 |
452 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs768753774 | 452 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9977018 rs147105244 |
452 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9977019 rs147105244 |
452 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750148266 CA9976965 |
453 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750148266 CA9976966 |
453 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 454 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 454 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9976964 rs765665858 |
454 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 455 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 455 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9976963 rs757597999 |
455 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 456 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409819739 rs1339213944 |
456 | N>S | No |
ClinGen gnomAD |
|
|
rs1168871321 CA409819746 |
457 | I>T | No |
ClinGen gnomAD |
|
|
CA9976962 rs754172584 |
457 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398670772 CA409819751 |
458 | T>A | No |
ClinGen TOPMed |
|
|
CA409819752 rs761088080 |
458 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9976960 rs761088080 |
458 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA9976959 rs761088080 |
458 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA9976958 rs775537174 |
459 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759727745 CA9976956 |
459 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9976957 rs759727745 |
459 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393711343 CA409819758 |
460 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs774516826 CA9976955 |
461 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 461 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409819775 rs1455136362 |
462 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9976953 rs747920313 |
462 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9976954 rs771164931 |
462 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 462 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 463 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776296746 CA9976952 |
463 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1363734169 CA409819777 |
463 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 464 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768632607 CA9976951 |
464 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs745399187 CA9976947 |
465 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9976948 rs375070018 |
465 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9976950 rs746975259 |
465 | D>N | No |
ClinGen ExAC TOPMed |
|
|
rs375070018 CA9976949 |
465 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409819794 rs1250449526 |
466 | V>E | No |
ClinGen gnomAD |
|
|
CA9976946 rs778656033 |
466 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9976942 rs375879420 CA9976941 |
467 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764426950 CA9976943 |
467 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409819802 rs774428997 |
468 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9976938 rs774428997 |
468 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9976939 rs774428997 |
468 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9976936 rs763153044 |
469 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 469 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409819808 rs763153044 |
469 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354640466 CA409819813 |
470 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
VAR_025400 rs150482 CA9976935 |
470 | L>P | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA409819816 rs150482 |
470 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409819814 rs1354640466 |
470 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9976933 rs760629727 |
471 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA409819817 rs1600993043 |
471 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 472 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414458154 CA409819823 |
472 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9976928 CA409819832 rs778568331 |
473 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA9976929 rs745316124 |
473 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 474 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs748945618 CA9976926 |
475 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs1314927846 CA409819841 |
475 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs770609988 CA9976927 |
475 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 476 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1482196458 CA409819847 |
476 | V>M | No |
ClinGen gnomAD |
|
|
rs1223616174 CA409819854 |
477 | K>E | No |
ClinGen gnomAD |
|
|
rs756398586 CA9976924 |
478 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755481564 CA409819867 |
479 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755481564 CA9976921 |
479 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9976920 rs751635609 |
479 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766425558 CA9976919 |
480 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs750650542 CA9976916 |
481 | F>L | No |
ClinGen ExAC TOPMed |
|
|
CA9976918 rs763210612 |
481 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1346991719 CA409819882 |
481 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs9996 CA9976914 |
482 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9976915 rs765526982 |
482 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs9996 CA9976913 VAR_061895 |
482 | Y>S | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA9976911 rs773893493 |
483 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9976910 rs773893493 |
483 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409819891 rs1347924791 |
483 | S>P | No |
ClinGen gnomAD |
|
|
CA409819890 rs1347924791 |
483 | S>T | No |
ClinGen gnomAD |
|
|
CA409819908 rs1408933974 |
484 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs779199298 CA9976761 |
485 | L>F | No |
ClinGen ExAC |
|
| TCGA novel | 485 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1448069894 CA409819920 |
486 | P>L | No |
ClinGen gnomAD |
|
|
CA9976760 rs757759527 |
486 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs532224827 CA9976758 |
487 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1430694330 CA409819924 |
487 | T>I | No |
ClinGen gnomAD |
|
|
CA9976752 rs769521893 |
488 | Y>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs148862984 CA9976753 |
488 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146928839 CA9976755 |
488 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146928839 CA9976754 |
488 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409819936 rs200633993 |
489 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs549704276 CA9976751 |
489 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409819943 rs1236955411 |
490 | D>E | No |
ClinGen gnomAD |
|
|
rs1473140271 CA409819937 |
490 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9976749 rs768731357 |
491 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 491 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9976748 rs529676177 |
491 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771832897 CA9976747 |
492 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 492 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409819956 rs1431634382 |
492 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9976746 rs771832897 |
492 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9976744 rs757521579 |
493 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757521579 CA9976743 |
493 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745555372 CA9976745 |
493 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs778188505 CA9976741 |
495 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1356305685 CA409819969 |
495 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA409819981 TCGA novel rs1482904884 CA409819982 |
496 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
rs1443822256 CA409819977 |
496 | F>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1231704238 CA409819988 |
497 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 497 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767633388 CA9976738 |
499 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA317618717 rs796722833 |
499 | H>Q | No |
ClinGen TOPMed |
|
|
rs752760516 CA9976739 |
499 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA409820005 rs1367238972 |
500 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel rs1600996595 CA409820009 |
500 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA409820010 rs761460005 |
501 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA409820013 rs1411624452 |
501 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9976734 rs761460005 |
501 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA9976735 rs761460005 |
501 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 501 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 502 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776570136 CA9976732 |
503 | I>F | No |
ClinGen ExAC TOPMed |
|
|
CA9976731 rs527406045 |
503 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409820030 rs1288697280 |
504 | E>G | No |
ClinGen gnomAD |
|
|
rs775113189 CA9976729 |
504 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9976728 rs771748827 |
505 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879146658 CA317618774 |
506 | N>D | No |
ClinGen Ensembl |
|
|
CA9976726 rs773825579 |
506 | N>K | No |
ClinGen ExAC |
|
|
rs745413372 CA9976727 |
506 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA317618785 rs201582298 |
507 | R>K | No |
ClinGen 1000Genomes gnomAD |
|
|
rs779962709 CA9976677 |
507 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409820047 rs1451520909 |
507 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA409820061 rs1432945554 |
508 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 508 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772237648 CA9976675 |
509 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 509 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779218112 CA9976673 |
510 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409820079 rs1419182732 |
511 | P>S | No |
ClinGen gnomAD |
|
|
CA409820085 rs1170862146 |
512 | K>* | No |
ClinGen gnomAD |
|
| TCGA novel | 512 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 512 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 512 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9976671 rs752528007 |
512 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 513 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 513 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 513 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9976669 rs754840934 |
513 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754840934 CA9976670 |
513 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409820097 TCGA novel rs751475912 |
514 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA ExAC gnomAD |
|
CA409820098 rs766253736 |
514 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409820100 rs372871658 |
514 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9976667 rs766253736 |
514 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751475912 CA9976668 |
514 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA409820099 rs766253736 |
514 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761508227 CA9976663 |
516 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 516 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409820124 rs776836004 |
518 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA9976662 rs776836004 |
518 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9976659 rs776015776 |
519 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760975106 CA9976660 |
519 | H>Y | No |
ClinGen ExAC |
|
| TCGA novel | 520 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745874858 CA409820145 |
521 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs745874858 CA9976658 |
521 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA9976657 rs745874858 |
521 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1262072150 CA409820151 |
522 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 522 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779199857 CA409820157 |
523 | A>P | No |
ClinGen ExAC |
|
|
rs779199857 CA9976656 |
523 | A>S | No |
ClinGen ExAC |
|
|
rs537829038 CA409820161 |
524 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749565759 CA409820162 |
524 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9976653 rs749565759 |
524 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs537829038 CA9976654 |
524 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376317057 CA9976650 |
525 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 525 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 525 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535557577 CA9976649 |
526 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9976648 rs758400092 |
526 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA409820172 rs758400092 |
526 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9976646 rs764772581 |
527 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
CA9976647 rs567724468 |
527 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 528 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 528 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 529 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1369604042 CA409820187 |
529 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 530 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409820197 rs1421544267 |
530 | D>G | No |
ClinGen gnomAD |
|
|
rs761421704 CA9976645 |
530 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 531 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409820202 rs1182485036 |
531 | F>V | No |
ClinGen gnomAD |
|
|
rs868380365 CA317620481 |
532 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 533 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211489256 CA409820217 |
533 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA409820214 rs373095461 |
533 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9976643 rs373095461 |
533 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 534 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1319960887 TCGA novel CA409820225 |
534 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA409820227 rs761042461 |
535 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9976642 rs761042461 |
535 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775720107 CA9976641 |
536 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs768133066 CA9976640 |
536 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 537 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774542896 CA9976638 |
537 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1229208656 CA409820248 |
538 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 538 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 538 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9976635 rs369994889 |
539 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1388898170 CA409820251 |
539 | E>G | No |
ClinGen gnomAD |
|
|
CA9976634 rs369994889 |
539 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA409820255 rs746818662 |
540 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9976633 rs746818662 |
540 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 540 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758305832 CA9976631 CA317620513 |
541 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 541 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409820266 rs779885514 |
541 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA9976632 rs779885514 |
541 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA409820270 rs1173421612 |
542 | T>A | No |
ClinGen gnomAD |
|
|
CA9976630 rs146524466 |
542 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146524466 CA409820271 |
542 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 542 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9976629 rs527927451 |
543 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9976627 rs571598993 |
544 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
CA409820281 rs1409385803 |
544 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9976626 rs756738534 |
544 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs759410796 | 544 | S>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755786653 CA9976623 |
545 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267606168 CA9976624 |
545 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA317620541 rs267606168 |
545 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409820285 rs755786653 |
545 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267606168 CA9976625 |
545 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753090991 CA409820292 |
546 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9976622 rs753090991 |
546 | V>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 546 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144163164 CA9976621 |
547 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144163164 CA409820294 |
547 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1448082435 CA409820302 |
548 | A>G | No |
ClinGen gnomAD |
|
|
rs169758 VAR_057348 CA9976620 |
549 | G>E | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 550 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 550 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332068983 CA409820317 |
551 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9976617 rs144623440 |
551 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144623440 CA9976618 |
551 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 552 | D>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770046700 CA9976615 |
552 | D>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 552 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with P56180
5 regional properties for P56180
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Tyrosine-specific protein phosphatases domain | 313 - 381 | IPR000387 |
| domain | Tensin phosphatase, C2 domain | 409 - 540 | IPR014020 |
| active_site | Protein-tyrosine phosphatase, active site | 336 - 346 | IPR016130 |
| domain | Tensin-type phosphatase domain | 228 - 404 | IPR029023 |
| domain | TPTE, protein tyrosine phosphatase-like catalytic domain | 224 - 400 | IPR045102 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.48 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity | Catalysis of the reaction: phosphatidylinositol-3,4,5-trisphosphate + H2O = phosphatidylinositol-4,5-bisphosphate + phosphate. |
| protein tyrosine phosphatase activity | Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| cell motility | Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. |
| dephosphorylation | The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| phosphatidylinositol 3-kinase signaling | A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions. |
| phosphatidylinositol dephosphorylation | The process of removing one or more phosphate groups from a phosphatidylinositol. |
| protein dephosphorylation | The process of removing one or more phosphoric residues from a protein. |
| regulation of protein kinase B signaling | Any process that modulates the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNESPDPTDL | AGVIIELGPN | DSPQTSEFKG | ATEEAPAKES | PHTSEFKGAA | RVSPISESVL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ARLSKFEVED | AENVASYDSK | IKKIVHSIVS | SFAFGLFGVF | LVLLDVTLIL | ADLIFTDSKL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YIPLEYRSIS | LAIALFFLMD | VLLRVFVERR | QQYFSDLFNI | LDTAIIVILL | LVDVVYIFFD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IKLLRNIPRW | THLLRLLRLI | ILLRIFHLFH | QKRQLEKLIR | RRVSENKRRY | TRDGFDLDLT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YVTERIIAMS | FPSSGRQSFY | RNPIKEVVRF | LDKKHRNHYR | VYNLCSERAY | DPKHFHNRVV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RIMIDDHNVP | TLHQMVVFTK | EVNEWMAQDL | ENIVAIHCKG | GTDRTGTMVC | AFLIASEICS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TAKESLYYFG | ERRTDKTHSE | KFQGVKTPSQ | KRYVAYFAQV | KHLYNWNLPP | RRILFIKHFI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IYSIPRYVRD | LKIQIEMEKK | VVFSTISLGK | CSVLDNITTD | KILIDVFDGL | PLYDDVKVQF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FYSNLPTYYD | NCSFYFWLHT | SFIENNRLYL | PKNELDNLHK | QKARRIYPSD | FAVEILFGEK |
| 550 | |||||
| MTSSDVVAGS | D |